SCARB2 Gene Epilepsy Progressive Myoclonic Type 4 with or without Renal Failure NGS Genetic DNA Test
Comprehensive Genetic Testing for Progressive Myoclonic Epilepsy
The SCARB2 Gene Epilepsy Progressive Myoclonic Type 4 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test utilizes Next-Generation Sequencing technology to identify mutations in the SCARB2 gene, which plays a critical role in lysosomal function and neurological health. Progressive myoclonic epilepsy type 4 is a rare inherited neurological disorder characterized by progressive neurological deterioration, making early and accurate diagnosis essential for optimal patient management.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- SCARB2 gene mutations associated with progressive myoclonic epilepsy type 4
- Pathogenic variants that may cause neurological symptoms
- Genetic markers indicating risk for renal complications
- Inheritance patterns for family planning considerations
- Specific mutation types that may influence treatment approaches
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive myoclonic seizures that worsen over time
- Ataxia and coordination difficulties
- Progressive neurological decline
- Family history of similar neurological conditions
- Unexplained renal dysfunction alongside neurological symptoms
- Early-onset progressive neurological disorders
- Suspected inherited epilepsy syndromes
Key Benefits of SCARB2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out SCARB2-related epilepsy
- Personalized Treatment: Guides medication selection and management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables proactive management of symptoms
- Renal Monitoring: Identifies patients at risk for kidney complications
- Prognostic Information: Helps understand disease progression patterns
Understanding Your Test Results
Our genetic counselors provide comprehensive interpretation of your results:
- Positive Result: Indicates presence of SCARB2 mutation; requires follow-up with neurologist
- Negative Result: Suggests alternative causes for symptoms; further evaluation recommended
- Variant of Uncertain Significance: Requires additional family studies and monitoring
- Carrier Status: Important for family planning decisions
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | SCARB2 Gene Epilepsy Progressive Myoclonic Type 4 with or without Renal Failure NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session with certified genetic counselor
- Detailed pedigree chart of affected family members
- Neurological evaluation documentation
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network of certified genetic counselors and neurological specialists ensures comprehensive care regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about your neurological symptoms delay proper diagnosis and treatment. Our SCARB2 genetic test provides the clarity needed to make informed healthcare decisions. With advanced NGS technology and expert genetic counseling, you can understand your condition and plan for the future with confidence.
Ready to begin your genetic testing journey? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health and receiving personalized care tailored to your genetic profile.

